UniProtKB/Swiss-Prot Q13428: Variant p.Val887Ala

Treacle protein
Gene: TCOF1
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Variant information Variant position:

887 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Alanine (A) at position 887 (V887A, p.Val887Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs7713638 [ dbSNP | Ensembl ]

Sequence information Variant position:

887 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1488 The length of the canonical sequence.
Location on the sequence:

DSGSSEEESDSEEEAETLAQ V KPSGKTHQIRAALAPAKESP The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DSGSSEEESDSEEEAETLAQVKPSGKTHQIRAALAPAKESP

Mouse                         SESSSKEESDSEE--ETPAQIKPVGKTSQVRAASAPAKESP

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1488	Treacle protein
Region	57 – 1288	Disordered
Modified residue	868 – 868	Phosphoserine
Modified residue	870 – 870	Phosphoserine
Modified residue	871 – 871	Phosphoserine
Modified residue	875 – 875	Phosphoserine
Modified residue	877 – 877	Phosphoserine
Modified residue	906 – 906	Phosphoserine

Literature citations
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.
Dixon J.; Edwards S.J.; Gladwin A.J.; Dixon M.J.; Loftus S.K.; Bonner C.A.; Koprivnikar K.; Wasmuth J.J.;
Nat. Genet. 12:130-136(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887; Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
Dixon J.; Edwards S.J.; Anderson I.; Brass A.; Scambler P.J.; Dixon M.J.;
Genome Res. 7:223-234(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887; TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Wise C.A.; Chiang L.C.; Paznekas W.A.; Sharma M.; Musy M.M.; Ashley J.A.; Lovett M.; Jabs E.W.;
Proc. Natl. Acad. Sci. U.S.A. 94:3110-3115(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS PRO-665 AND ALA-887; Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
So R.B.; Gonzales B.; Henning D.; Dixon J.; Dixon M.J.; Valdez B.C.;
Gene 328:49-57(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING (ISOFORM 4); VARIANTS PRO-665 AND ALA-887; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1452 (ISOFORM 7); VARIANT ALA-887; The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Edwards S.J.; Gladwin A.J.; Dixon M.J.;
Am. J. Hum. Genet. 60:515-524(1997)
Cited for: VARIANTS LEU-516; ALA-887; VAL-1390 AND GLY-1432; VARIANT TCS1 ARG-53;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.